SYNLAB MVZ
Humangenetik Mannheim

Pseudopseudohypoparathyreoidismus (PPHP)

Ihr regionales Labor für Rückfragen und Beauftragung
Material Dauer Akkreditierung
3 - 5 ml EDTA-Blut 4 Wochen ja
Untersuchte Bereiche / Gene
Gen/Region OMIM-P Erbgang Erkrankung Methodik
GNAS 103580 AD Pseudopseudohypoparathyreoidismus (PPHP) Methylierungssensitive MLPA, Short-Read-NGS
HPO Terms
Abdominal obesity|Abdominal symptom|Abnormal circulating aldosterone concentration|Abnormal circulating renin concentration|Abnormal endocrine physiology|Abnormal facial skeleton morphology|Abnormal femur morphology|Abnormal libido|Abnormal platelet function|Abnormal response to corticotropin releasing hormone stimulation test|Abnormal sexual behavior|Abnormal skull base morphology|Abnormal testis morphology|Abnormality of the face|Abnormality of the parathyroid gland|Abnormality of the skeletal system|Abnormality of the thyroid gland|Accelerated skeletal maturation|Acne|Acral overgrowth|Adrenal hyperplasia|Adult onset|Agitation|Alopecia|Aneurysmal bone cyst|Ankylosis|Anxiety|Autoimmune antibody positivity|Autosomal dominant inheritance|Band keratopathy|Basal ganglia calcification|Benign gastrointestinal tract tumors|Blindness|Bone fracture|Bone marrow hypocellularity|Bone pain|Brachydactyly|Breast carcinoma|Broad 1st metacarpal|Broad distal phalanx of the thumb|Bruising susceptibility|Calcinosis|Cataract|Cerebral calcification|Chest pain|Cholestasis|Choreoathetosis|Choroid plexus calcification|Cognitive impairment|Confusion|Conjunctivitis|Constrictive median neuropathy|Cortical subperiosteal resorption of humeral metaphyses|Craniofacial hyperostosis|Cutaneous myxoma|Decreased circulating ACTH concentration|Decreased fertility|Decreased response to growth hormone stimulation test|Delayed eruption of teeth|Delayed speech and language development|Dental malocclusion|Depressed nasal bridge|Depression|Diaphyseal sclerosis|Dorsocervical fat pad|Dyskinesia|Dyspnea|Ectopic calcification|Ectopic ossification|Ectopic ossification in muscle tissue|Elevated circulating calcitonin concentration|Elevated circulating growth hormone concentration|Elevated circulating parathyroid hormone level|Elevated circulating thyroid-stimulating hormone concentration|Emotional lability|Enamel hypoplasia|Facial asymmetry|Fibrous dysplasia of the bones|Full cheeks|Gastroesophageal reflux|Glucose intolerance|Goiter|Growth abnormality|Hearing impairment|Hepatic steatosis|Hepatitis|Hepatocellular adenoma|Hirsutism|Hypergonadotropic hypogonadism|Hyperlipidemia|Hypermelanotic macule|Hyperostosis frontalis interna|Hyperparathyroidism|Hyperphosphatemia|Hyperphosphaturia|Hyperpigmentation of the skin|Hyperplasia of the Leydig cells|Hypertension|Hyperthyroidism|Hypocalcemia|Hypocalcemic seizures|Hypocalcemic tetany|Hypogonadism|Hypophosphatemia|Hyporeflexia|Hypothyroidism|Increased body weight|Increased bone density with cystic changes|Increased bone mineral density|Increased circulating ACTH level|Increased circulating aldosterone concentration|Increased circulating cortisol level|Increased circulating prolactin concentration|Increased serum testosterone level|Increased susceptibility to fractures|Increased urinary cortisol level|Infantile onset|Intellectual disability|Intestinal polyposis|Intrauterine growth retardation|Involuntary movements|Irregular menstruation|Irritability|Juvenile onset|Kyphosis|Large cafe-au-lait macules with irregular margins|Laryngeal dystonia|Limb undergrowth|Limitation of joint mobility|Low urinary cyclic AMP response to PTH administration|Macronodular adrenal hyperplasia|Macroorchidism|Macule|Mania|Memory impairment|Meningioma|Mental deterioration|Monostotic fibrous dysplasia|Moon facies|Muscle spasm|Myoclonic spasms|Nasal congestion|Neoplasm|Nephrolithiasis|Neuroendocrine neoplasm|Nystagmus|Obesity|Oligomenorrhea|Osteoarthritis|Osteoma cutis|Osteomalacia|Osteopenia|Osteoporosis|Ovarian cyst|Pancreatic intraductal papillary mucinous neoplasm|Pancreatitis|Pancytopenia|Papule|Paradoxical increased cortisol secretion on dexamethasone suppression test|Paresthesia|Pathologic fracture|Pituitary adenoma|Pituitary corticotropic cell adenoma|Pituitary growth hormone cell adenoma|Pituitary resistance to thyroid hormone|Plethora|Polyostotic fibrous dysplasia|Polyphagia|Precocious puberty|Primary hypercortisolism|Primary hyperparathyroidism|Progressive|Prolonged QT interval|Proximal amyotrophy|Proximal muscle weakness|Pseudohypoparathyroidism|Psychosis|Psychotic episodes|Recurrent fractures|Reduced bone mineral density|Reduced circulating prolactin concentration|Renal cell carcinoma|Renal phosphate wasting|Renal tubular dysfunction|Round face|Sarcoma|Sclerotic ilium|Scoliosis|Seizure|Sensorineural hearing impairment|Short 3rd metacarpal|Short 4th metacarpal|Short 5th finger|Short 5th metacarpal|Short distal phalanx of the 3rd finger|Short distal phalanx of the thumb|Short fifth metatarsal|Short finger|Short metacarpal|Short metatarsal|Short neck|Short stature|Short toe|Skeletal dysplasia|Skeletal muscle atrophy|Spinal cord compression|Sporadic|Strabismus|Striae distensae|Subcutaneous nodule|Subcutaneous ossification|Thickened calvaria|Thin skin|Truncal obesity|Typified by somatic mosaicism|Visual loss
Kosten
Die Kosten werden bei bestehender medizinischer Indikation über einen Überweisungsschein Typ 10 (EBM) abgerechnet. Humangenetische Leistungen sind nicht budgetrelevant. Für privatversicherte Patienten sowie private Kostenträger (Krankenhäuser etc.) können auf Wunsch entsprechende Kostenvoranschläge erstellt werden.
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